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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT4

KRT4

106 papers

RefSeq Summary

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpre...

Pfam Domains

Keratin_2_headaa 14–78UCSCKeratin type II head

Keratin_2_headaa 66–133UCSCKeratin type II head

Filamentaa 136–449UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 4

HGNC Previous Symbol

CYK4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 110 variants

15 papers

chr12:52813800 C>CCACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGG

NM_002272.4

p.G87ins14

c.259_260ins42

Keratin_2_head

exact variant not in gnomAD28 overlapping SVs

7 papers

chr12:52813798 A>AN

NM_002272.4

p.G87fs

c.259_260fs

Keratin_2_head

exact variant not in gnomAD28 overlapping SVs

3 papers

chr12:52813799 C>CCACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGG

NM_002272.4

p.G87ins14

c.260_261ins42

Keratin_2_head

Exome: 86.7% (AC=1263766, hom=549267)Genome: 89.3% (AC=131171, hom=58802)28 overlapping SVs

3 papers

chr12:52813799 C>G

NM_002272.4

p.G87A

c.260G>C

Keratin_2_head

exact variant not in gnomAD28 overlapping SVs

3 papers

chr12:52813798 A>G

NM_002272.4

p.G87G

c.261T>C

Keratin_2_head

exact variant not in gnomAD28 overlapping SVs

3 papers

chr12:52813703 A>G

NM_002272.4

p.L119P

c.356T>C

Keratin_2_head

exact variant not in gnomAD28 overlapping SVs

3 papers

chr12:52811973 T>C

NM_002272.4

p.Q156R

c.467A>G

Filament

Exome: 18.0% (AC=263190, hom=27378)Genome: 27.8% (AC=42214, hom=8308)28 overlapping SVs

3 papers

chr12:52811817 C>T

NM_002272.4

p.R208H

c.623G>A

Filament

Exome: 0.3% (AC=4649, hom=13)Genome: 0.2% (AC=354, hom=1)28 overlapping SVs

2 papers

chr12:52813844 G>A

NM_002272.4

p.A72V

c.215C>T

Keratin_2_head

Exome: 38.7% (AC=257138, hom=24389)Genome: 55.0% (AC=35472, hom=5109)28 overlapping SVs

2 papers

chr12:52811892 T>C

NM_002272.4

p.N183S

c.548A>G

Filament

Exome: 0.1% (AC=1019, hom=1)Genome: 0.0% (AC=57, hom=0)28 overlapping SVs

2 papers

chr12:52808339 C>T

NM_002272.4

p.R360R

c.1080G>A

Filament

Exome: 0.1% (AC=2138, hom=6)Genome: 0.1% (AC=205, hom=0)28 overlapping SVs

1 paper

chr12:52814041 C>A

NM_002272.4

p.Q6H

c.18G>T

exact variant not in gnomAD28 overlapping SVs

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